| Identification |
|---|
| HMDB Protein ID
| HMDBP14615 |
| Secondary Accession Numbers
| None |
| Name
| Hemojuvelin |
| Synonyms
|
- Hemochromatosis type 2 protein homolog
- Hemojuvelin BMP coreceptor
- RGM domain family member C
|
| Gene Name
| HJV |
| Protein Type
| Unknown |
| Biological Properties |
|---|
| General Function
| Not Available |
| Specific Function
| Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis. |
| Pathways
|
Not Available
|
| Reactions
| Not Available |
| GO Classification
|
| Biological Process |
| cellular iron ion homeostasis |
| activin receptor signaling pathway |
| negative regulation of transcription from RNA polymerase II promoter |
| cellular response to BMP stimulus |
| iron ion homeostasis |
| positive regulation of transcription from RNA polymerase II promoter |
| protein autoprocessing |
| BMP signaling pathway |
| negative regulation of BMP signaling pathway |
| Cellular Component |
| plasma membrane |
| plasma membrane protein complex |
| HFE-transferrin receptor complex |
| BMP receptor complex |
| basolateral plasma membrane |
| cell surface |
| extracellular space |
| anchored to membrane |
| Molecular Function |
| coreceptor activity |
| BMP binding |
| receptor binding |
| transferrin receptor binding |
|
| Cellular Location
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Not Available |
| Locus
| Not Available |
| SNPs
| Not Available |
| Gene Sequence
|
Not Available
|
| Protein Properties |
|---|
| Number of Residues
| Not Available |
| Molecular Weight
| 45220.755 |
| Theoretical pI
| Not Available |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
Not Available
|
| External Links |
|---|
| GenBank ID Protein
| Not Available |
| UniProtKB/Swiss-Prot ID
| Q8N7M5 |
| UniProtKB/Swiss-Prot Entry Name
| RGMC_RAT |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| Not Available |
| GeneCard ID
| Not Available |
| GenAtlas ID
| Not Available |
| HGNC ID
| Not Available |
| References |
|---|
| General References
| - Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP: Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004 Jan;36(1):77-82. Epub 2003 Nov 30. [PubMed:14647275 ]
|
